HgV is an open source fully configurable platform that offers tools for analyzing high-throughput whole genome sequence data in precision medicine research and clinical applications. It improves on existing methods and protocols for processing and analyzing data from whole genomes, the company said.
According to DNAnexus, HgV is designed to handle the sort of throughput that flows from Illumina X Ten instruments, and provides a secure and scalable environment for analyzing data from single and multi-sample projects. Its features include functional whole-genome annotation of both protein-coding and non-coding regions using data from multiple sources; aggregation of annotation, phenotype, and variant information in a NoSQL-based extensible and scalable data warehouse; the ability to integrate heterogenous library protocols and sequencing platforms including long-read sequencing and SNP arrays; and tools for prioritizing variants associated with Mendelian diseases, pedigree sample sets, and de novo mutation analysis in trios, cancer, and case/control studies.
HgV will be available in the DNAnexus cloud infrastructure and will offer pre-configured workflows for various use cases, the company said. As part of efforts to make the system available on the cloud, the partners will establish a high-quality personal genome for testing, benchmarking, and validating protocols, methods, and tools. The partners will also focus on trackability, versioning, and reproducibility to enable seamless transition into a CAP/CLIA environment.